Identification of fifteen novel PHEX gene mutations in Finnish patients with hypophosphatemic rickets.

Tyynismaa, H; Kaitila, I; Näntö-Salonen, K; Ala-Houhala, M; Alitalo, T

Tyynismaa, H; Kaitila, I; Näntö-Salonen, K; Ala-Houhala, M; Alitalo, T.

Affiliation

Tyynismaa H; Dept. Medical Genetics, University of Helsinki, Helsinki, Finland.

Hum Mutat ; 15(4): 383-4, 2000 Apr.

Article in En | MEDLINE | ID: mdl-10737991

Subject(s)

Hypophosphatemia, Familial/genetics; Mutation/genetics; Proteins/genetics; Child; DNA Mutational Analysis; Female; Finland; Genetic Testing; Homozygote; Humans; Hypophosphatemia, Familial/diagnosis; Hypophosphatemia, Familial/diagnostic imaging; Hypophosphatemia, Familial/drug therapy; Male; Mutation, Missense/genetics; Osteomalacia/genetics; PHEX Phosphate Regulating Neutral Endopeptidase; Polymorphism, Genetic/genetics; Radiography; Treatment Outcome

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PubMed Links

Database: MEDLINE Main subject: Proteins / Hypophosphatemia, Familial / Mutation Type of study: Diagnostic_studies / Prognostic_studies Limits: Child / Female / Humans / Male Country/Region as subject: Europa Language: En Year: 2000 Type: Article

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